Objective: Investigate the clinical features of movement disorders (MD), as well as brain imaging findings, in order to identify a radio-clinical correlation in mitochondrial diseases (MiD).

Background: MiD are relatively common inherited metabolic diseases due to mitochondrial respiratory chain dysfunction. Their clinical presentations are extremely diverse preferentially affecting the muscle and nervous system. MD have become an increasingly recognized clinical manifestation of MiD especially among pediatric patients.

Methods: We retrospectively assessed the medical records of MiD patients who attended the Child Neurology department (n: 50), and we included those with extrapyramidal MD (dystonia, chorea, parkinsonism) to investigate their clinical features and MRI outcomes.

Results: Among the 50pediatric patients with MiD, we selected 27patients (M/F: 16/11) who had 1 or a combination of extrapyramidal MD during their disease course (age range 2-24years), with an average of age at onset of 2years [0.25-9years]. Most of patients had a phenotype compatible with Leigh Syndrome (LS)(70.37%), where MD are just a part of a complex progression clinical presentation (84.21%).The most common clinical MD was dystonia (18 patients [66.66%]), isolated or associated with myoclonia (2patients) and Parkinsonism (4patients). Chorea occurred in 22.22%, while the rest had a mixed choreic-dystonic MD. Brain MRI most often revealed bilateral T2-weighted hyperintensities in basal ganglia (88.46%). However, 2 patients had anomalies within white matter, cerebellum and corpus callosum and 1 had normal brain imaging. The striatum (caudate nuclei and/or putamen) was the most involved spot in patients with dystonic features (66.66%), whereas, bi-pallidal lesions (+/- caudate nuclei) were commonly found in patients with choreoathetosis (83.33%). Cerebellar atrophy was detected in 6 non-ataxic patients.

Conclusions: MD are more frequent in MiD than usually anticipated. Dystonia appears to be the most common MD in pediatric cases with a wide clinical spectrum, ranging from pure dystonia with normal cognition to complex encephalopathy where dystonia is just a part. There is evidence of the functional role of the striatum in dystonia; yet, the putative role of the pallidum in generating chorea needs further investigations using functional imaging data. The link between basal ganglia and MD is well-established, beyond that, the cerebellum seems to be closely connected to basal ganglia and involved in MD.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/movement-disorders-in-mitochondrial-disease-radio-clinical-correlation-in-pediatric-patients/